S19L (p.Ser19Leu) variant of CACNA1E (Q15878)
S19L (p.Ser19Leu) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs758128368
- ClinGen CA1274818
- cosmic curated COSV62398
- ClinVar RCV002090431
- Conflicting interpretations
- Inborn genetic diseases; not provided; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Developmental and epilept)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00054)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)